Cystic Fibrosis Case Study

Cystic Fibrosis Case study for review: A 6-year-old male child, Ethan, presents with a history of chronic cough, recurrent lung infections, and poor weight gain. His parents are very concerned about his difficulty gaining weight and need guidance to help Ethan receive adequate nutrition to promote growth. Ethan was diagnosed with Cystic Fibrosis through newborn screening, and further genetic testing confirmed homozygosity for the CFTR gene mutation. Ethan’s parents were devastated by the diagnosis and overwhelmed by the challenges associated with managing a lifelong genetic disease. Ethans vital signs for this visit are: B/P100/60; HR100 beats/m; RR20 breaths/m; Temperature98.6. His weight is 18kg & height is 110 cm, which places him in the 60th percentile for height and 30th percentile for weight per the CDC growth chart for boys aged 2-19 years. Instructions Consider the following questions as you review the grading rubric for required content: Elaborate on the genetic components of cystic fibrosis (CF). Be sure to include information on the CFTR gene. Elaborate on the implications of CF on family planning and future pregnancies for Ethans parents. What information would need to be shared with the parents and how would these discussions be facilitated by an advanced nursing professional? What lab tests would need to be ordered for this patient? What are the key clinical manifestations and diagnostic criteria used to identify cystic fibrosis in children like Ethan? Discuss the significance of early diagnosis and newborn screening in identifying CF and its potential impact on treatment outcomes and long-term prognosis in affected children? Discuss the specific respiratory and digestive components of CF and how these are treated. Include a discussion of the pathophysiology of CF as it relates to the respiratory and digestive systems. Describe the first-line medication regimen for CF. Determine and discuss if this will be appropriate for this patient. Describe a multidisciplinary approach to CF management. How will interprofessional collaboration play an important role in the care of Ethan? Think about different professionals who will be involved in this childs care. Provide a detailed care plan for Ethan that includes psychosocial family support, genetic counseling, medication management, nutritional support, any specific treatment techniques applicable to CF, and education to be provided to Ethans parents. Include at least one clinical practice guideline to support your plan. Be sure to include first & second line medication treatment choices based upon the clinical practice guideline. Additional Instructions: The submission should have a title page, reference page, and a brief introduction to the case study. Utilize a minimum of five scholarly resources. Adhere to grammar, spelling, and punctuation criteria. Adhere to APA compliance guidelines. Adhere to the chosen Submission Option for Delivery of activity instructions. *Choose one option Instructions Paper 6-8 page paper. Include title and reference pages. Microsoft Power Point presentation or other media (Prezi, etc.) presentation 8-12 slides. Add title and reference slides. Include speaker notes placed in a Word document with citations and an APA formatted reference list, submitted through TurnItIn with an Originality Report Follow Rules of 7 Poster Presentation with Audio Poster Presentation of the case study utilizing any applicable poster template. Include visual graphics/images/other formats for visual appeal. Include appropriate title and references on poster. Include a Word document with script/speaker notes submitted through TurnItIn with an originality report. An audio recording should accompany the poster submission sharing the script/speaker notes. *Note: Title and reference pages/slides do not count towards the count requirements. Assignment 1 Grading Rubric Assignment 1–Genetic, Respiratory, & Digestive Disorders Competency Mastery 100% Proficient 90% Acceptable 83% Basic 70% Deficient-Mastery Not Met 0% Genetic components of the disorder (Question 1) (15%) Evaluates the genetic components of the disorder, including future implications for family planning & future pregnancies Analyzes the genetic components of the disorder, including future implications for family planning & future pregnancies Discusses the genetic components of the disorder, including future implications for family planning & future pregnancies Lists the genetic components of the disorder, including future implications for family planning & future pregnancies No inclusion of the genetic components of the disorder Lab tests, clinical manifestations, & diagnostic criteria (15%) (Question 2) Evaluates the lab tests, clinical manifestations, and diagnostic criteria for the disorder Analyzes the lab tests, clinical manifestations, and diagnostic criteria for the disorder Discusses the lab tests, clinical manifestations, and diagnostic criteria for the disorder Lists the lab tests, clinical manifestations, and diagnostic criteria for the disorder No inclusion of lab tests, clinical manifestations, and diagnostic criteria for the disorder Early screening & the impact on treatment options & prognosis (15%) (Question 3) Evaluates how early screening impacts treatment options and long term prognosis Analyzes how early screening impacts treatment options and long term prognosis Discusses how early screening impacts treatment options and long term prognosis Lists how early screening impacts treatment options and long term prognosis Does not include information about early screening and the impact on treatment & prognosis Pathophysiology of Cystic Fibrosis (15%) (Question 4-5) Evaluates the respiratory & digestive components of CF with a discussion of the pathophysiology of the disease related to the respiratory & digestive systems. Includes the first-line medication treatment. Analyzes the respiratory & digestive components of CF with a discussion of the pathophysiology of the disease related to the respiratory & digestive systems. Includes the first-line medication treatment. Discusses the respiratory & digestive components of CF with a discussion of the pathophysiology of the disease related to the respiratory & digestive systems. Includes the first-line medication treatment. Lists the respiratory & digestive components of CF with a discussion of the pathophysiology of the disease related to the respiratory & digestive systems. Includes the first-line medication treatment. Does not include any content related to the pathophysiology of CF related to the respiratory or digestive systems Interprofessional Collaboration (15%) (Question 6) Evaluates the interprofessional approach & how collaboration plays a role in the care of a child with CF over the lifetime Analyzes the interprofessional approach & how collaboration plays a role in the care of a child with CF over the lifetime Discusses the interprofessional approach & how collaboration plays a role in the care of a child with CF over the lifetime Lists the interprofessional approach & how collaboration plays a role in the care of a child with CF over the lifetime Does not include interprofessional collaboration in the submission Individualized plan of care (15%) (Question 7) Care plan includes all items described in #7 of instructions Care plan is missing no more than 1 items Care plan is missing no more than 2 items Care plan is missing no more than 3 items Care plan is missing more than 3 items Five resources for scholarly evidence are present and supports all points of the activity: References are not older than acceptable nursing program standards, unless they are considered seminal works References are from pertinent peer reviewed articles, journals or appropriate textbooks Web- references have authors, dates and can easily be accessed with the URL provided Unreliable references are avoided (e.g. Wikipedia) (5%) Five resources for scholarly evidence are present and supports all points of the activity: All criteria were met. Five resources for scholarly evidence are present and supports all points of the activity. AND One of the 4 cited criteria was violated. Four resources for scholarly evidence are present. OR Two of the 4 cited criteria were violated. Three resources for scholarly evidence are present. OR More than two of the 4 cited criteria were violated. Less than three resources for scholarly evidence referenced. APA, Grammar, spelling, and punctuation (5%) No errors in APA, grammar, spelling, and punctuations One to three errors in APA, grammar, spelling, and punctuation. Four to six errors in APA, grammar, spelling, and punctuation. Seven to eight errors in APA, grammar, spelling, and punctuation Nine or more errors in APA, grammar, spelling, and punctuation. The submission does not meet format guidelines.